What strategies do you use to recruit research participants for the BioResource?
We often look at patients who are due to visit Moorfields’ clinics in the next month or so, as our studies have broad eligibility criteria. For example, the Improving Black Health Outcomes (IBHO) study focuses on research within black communities, including healthy volunteers, as well as those with health problems.
We check the patient list a few weeks in advance, identify those who qualify, and contact them before their visit to let them know about research available to them while they’re at Moorfields. This approach has been very successful. For studies with more specific criteria, we use hospital databases to find patients with rare genetic disorders or gene mutations, thanks to our detailed genetics database linked to the hospital system.
What main challenges do you face in the process, and how do you overcome them?
Challenge: Getting information to patients in advance, especially those with severe visual impairments.
Solution: We cater to individual requirements by sending information via email for PDF readers or mailing it well in advance for those with carers. We also offer phone discussions to ensure everyone understands the research.
Challenge: Engaging with potential participants who may not respond to emails or phone calls during the day.
Solution: We improve community outreach and create presence in clinics, liaising with hospital staff to hand out information leaflets at reception to patients as they book in for appointments.
Challenge: Engaging with communities that have a lack of trust in research, particularly in the IBHO study focusing on individuals from black communities.
Solution: We train staff thoroughly to discuss the research and its long-term benefits, and emphasise that participation is voluntary, ensuring comfort and trust.
How do you ensure that the participants feel valued and well-informed throughout their involvement in the BioResource?
Projects like the BioResource can be tricky because they don’t involve treatments or give direct results to participants. We work hard to keep everyone in the loop since there’s no automatic feedback, as there can be with other trials. They will not see treatment success or get genetic results for example.
We share updates with people through the BioResource website, which has news and a list of publications. The BioResource also sends regular email newsletters to those who sign up. Additionally, Moorfields and the NIHR Moorfields BRC host various activities, events, and social media posts to keep everyone informed about the latest research outcomes.
What aspects of your job do you find most rewarding, especially in the context of contributing to clinical trials and research?
In my previous role as a genetic counsellor, I had the chance to see patients, especially those with rare inherited eye diseases, through their entire journey. It was incredibly rewarding to watch them go from a new diagnosis to genetic testing, and eventually to being eligible for clinical trials with gene therapies. Seeing patients benefit from treatments that wouldn’t have been available were they diagnosed 20 years ago is truly amazing.
Although I don’t have the same daily face-to-face interactions now that I’m in a management position, I stay involved by attending weekly lab meetings where genetic counsellors and consultants feedback interesting and unique cases. This keeps me connected to the diagnostic process and the impactful work being done.
Can you provide an example of a particularly memorable or impactful experience you’ve had while working in research?
There are two very different examples that stand out for me. First, I made a significant discovery using data from the NIHR BioResource for rare diseases and the 100,000 Genomes Project. We found a genetic variant common in people with Black African or Black Caribbean heritage, carried by about 1% of these populations. If both parents have this variant, their children have a 1 in 4 chance of developing retinitis pigmentosa (RP), a rare eye condition. This discovery has helped many people understand the cause of their condition, make informed family planning decisions, and have hope for future treatments. The discovery is already being used in clinics worldwide. The discovery provides answers and potential treatment options to thousands of people who have already been genetically screened.
A second more personal impactful experience was when I worked as a genetic counsellor. I helped diagnose a young adult with a severe retinal disorder who additionally had multiple disabilities. Her mother had felt guilty for over 20 years, thinking her daughter’s condition was her fault. We discovered that the genetic mutation was new and not inherited from either parent, which was life-changing for the family, removing years of internalised sorrow. This experience showed me the profound impact of genetic research, not just in terms of treatment but also in providing crucial answers and relieving emotional burdens for families.
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Data from the 100000 Genomes Project has been used to discover a genetic variant which provides a genetic answer or diagnosis for a sample of patients with Retinitis Pigmentosa (RP) who have Black African ancestry.
Interview with Prof. James Bainbridge on his work in clinical trials
James Bainbridge is Professor of Retinal Studies at UCL and Consultant Ophthalmologist at Moorfields Eye Hospital. He collaborates widely in multidisciplinary research programmes to develop new treatments for sight threatening conditions and to improve outcomes for those affected by diseases of the retina. He has received multiple awards throughout his career including an NIHR Research Professorship in 2012.